A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia


Sezer A., Oner S. S., Saat H., Turan M. G., Gungor T., Cevik S., ...More

EUROPEAN JOURNAL OF HUMAN GENETICS, pp.1-12, 2025 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Publication Date: 2025
  • Doi Number: 10.1038/s41431-025-01902-0
  • Journal Name: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.1-12
  • Gazi University Affiliated: Yes